Variant report

Variant	rs9993320
Chromosome Location	chr4:86694519-86694520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10516752	1.00[MEX][hapmap]
rs11941635	0.81[YRI][hapmap];0.88[AFR][1000 genomes]
rs13108185	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13110649	0.91[LWK][hapmap];0.88[MKK][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes]
rs13150113	1.00[MEX][hapmap]
rs1377206	1.00[MEX][hapmap]
rs1452678	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1482097	1.00[MEX][hapmap]
rs1482098	1.00[MEX][hapmap]
rs17010622	1.00[MEX][hapmap]
rs17010756	1.00[MEX][hapmap]
rs2869382	1.00[MEX][hapmap]
rs2869383	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6812584	0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7682809	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7684989	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879517	chr4:86677107-86739805	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86676800-86697800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr4:86682000-86697000	Weak transcription	Psoas Muscle	Psoas
4	chr4:86683200-86699000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:86683800-86695200	Weak transcription	HMEC	breast
6	chr4:86684600-86695800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:86684800-86695200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:86684800-86705600	Weak transcription	Small Intestine	intestine
9	chr4:86686200-86695000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:86688600-86696800	Weak transcription	Fetal Kidney	kidney
11	chr4:86692800-86695000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:86693200-86694600	Enhancers	NHDF-Ad	bronchial
13	chr4:86693600-86694800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:86693800-86697000	Weak transcription	Osteobl	bone
15	chr4:86694000-86695400	Weak transcription	Stomach Mucosa	stomach
16	chr4:86694000-86697000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:86694000-86697200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:86694400-86694600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:86694400-86696000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:86694400-86696200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr4:86694400-86696400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:86694400-86696400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:86694400-86697400	Enhancers	HUVEC	blood vessel

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